A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680580



Internal ID4894848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43782953..43795291hg38UCSC Ensembl
chr17:41860321..41872659hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3812339
hg1912339
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640637
Supporting Variants
SamplesNA12489
Known GenesC17orf105
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680580
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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